#SavingSage from L-CMD

The beginning: My name is Savanna Spires; I am a stay-at-home mother of 2 beautiful children. Our son Sage was born February 2020, around 6 months old my husband Devin and I began to notice he was having difficulties, and he wasn’t meeting milestones for a child of his age. He was unable to hold his head up, he wouldn’t attempt to crawl and he couldn’t sit up without help. We visited his primary physician who told us that he was just developing slowly. As he got older, he was still not meeting new milestones and wasn’t catching up with the previous ones either. We began to notice a loss in muscle tone in his arms and legs. He began waking up at night unable to sleep and screaming in pain. It broke our hearts to see our baby in pain and we felt powerless to help him. I spent hours at night holding and rocking him to get him to sleep at all. I, in effect, became his security blanket. Whenever he was in distress, I would have to hold him and rock him to comfort him in the only way I knew how. At 12 months he was unable to sit up on his own, he still couldn’t hold his head up and he couldn’t take a step.

Finding answers: At his 1-year checkup his primary care doctor became worried, so he sent us to see a neurologist at Vanderbilt University Hospital. They ran a slew of genetic tests, told us it would take 8 weeks for the results and sent us on our way. After 8 weeks I began calling every day to ask what the results were? No answer was given and I was even told to quit calling. One evening I had a bad gut feeling and decided to take him to UAB hospital in Birmingham, AL. I was desperate for answers. Unfortunately, after being seen by a team of doctors, no one had any idea what was wrong. Again we were sent home without hope. He did get set up with physical therapy and has been doing that 3 times a week for months.

Bad news: On July 1st 2021, 11 weeks and 2 days after the testing we finally had our answer. It was much worse than we could have ever imagined. Our 17month old baby was diagnosed with LMNA-CMD. It’s a muscular dystrophy subtype that happens in less than 1 out of every 1,000,000 births. There are currently only a little over 100 children known to have the disease in the entire world. My entire family is devastated. With little in the way of research or even knowledge about the disease we are stuck in limbo. The neurologist we spoke to gave Sage a life expectancy of just 2 years.

Asking for help: We’re not willing to give up and we’re asking for your help. We are raising money not only to help us with the medical expenses of taking care of our son, but also to help with research currently underway. If nothing else we would love it if you could share this on social media, tell family members and friends about it. Anything to help us find a way to keep our baby alive and make him comfortable living with this deadly, debilitating disease. You can find us on social media with the hashtag #SavingSage. Thank you so much for taking the time to read this and God bless. -The Spires family